Imaging Manifestations of the Leukodystrophies, Inherited Disorders of White Matter
作者： Edward Yang , Sanjay P. Prabhu
DOI: 10.1016/J.RCL.2013.11.008
关键词:
摘要: The leukodystrophies are a diverse set of inherited white matter disorders and uncommonly encountered by radiologists in everyday practice. As result, it is challenging to recognize these provide useful differential for the referring physician. In this article, reviewed from perspective 4 imaging patterns: global myelination delay, periventricular/deep predominant, subcortical mixed white/gray involvement patterns. Special emphasis placed on pattern recognition unusual combinations findings that may suggest specific diagnosis.
elsevier.com
sci-hub.se 参考文章(242)
A L Fluharty, K Sandhoff, M M Kaback, H Kihara, L J Shapiro, R L Stevens, B Marsh, G Fischer, Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. American Journal of Human Genetics. ,vol. 33, pp. 900- 906 ,(1981)
Aryan M. A. Namboodiri, John R. Moffett, Peethambaran Arun, Raji Mathew, Sreela Namboodiri, Asha Potti, Jeremy Hershfield, Batool Kirmani, David M. Jacobowitz, Chikkathur N. Madhavarao, Defective myelin lipid synthesis as a pathogenic mechanism of Canavan disease. Advances in Experimental Medicine and Biology. ,vol. 576, pp. 145- 163 ,(2006) , 10.1007/0-387-30172-0_10
Arvan L Fluharty, Arylsulfatase A Deficiency University of Washington, Seattle. ,(2014)
K Inui, J Nishimoto, K Suzuki, E Nanba, S Okada, GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. American Journal of Human Genetics. ,vol. 49, pp. 566- 574 ,(1991)
Robert J Desnick, Michael M Kaback, Hexosaminidase A Deficiency University of Washington, Seattle. ,(2011)
Nicholas Ah Mew, Andrea L Gropman, Kimberly A Chapman, Kara L Simpson, Brendan C Lanpher, Marshall L Summar, Urea Cycle Disorders Overview University of Washington, Seattle. ,(2015)
William A Gahl, David Adams, Free Sialic Acid Storage Disorders University of Washington, Seattle. ,(2013)
H Sakuraba, M Shimmoto, K Yoshida, A Oshima, N Yanagisawa, Y Fukuhara, Y Suzuki, Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. American Journal of Human Genetics. ,vol. 49, pp. 435- 442 ,(1991)
Yanick J. Crow, Aicardi-Goutières syndrome. Handbook of Clinical Neurology. ,vol. 113, pp. 1629- 1635 ,(2013) , 10.1016/B978-0-444-59565-2.00031-9
Maya Bhat, Chandrajit Prasad, Parayil Sankaran Bindu, Zarina Aziz, Rita Christopher, Jitender Saini, Unusual imaging findings in brain and spinal cord in two siblings with maple syrup urine disease. Journal of Neuroimaging. ,vol. 23, pp. 540- 542 ,(2013) , 10.1111/J.1552-6569.2012.00746.X